Browse By Person: McInerney-Leo, Aideen

McInerney-Leo, Aideen M., West, Jennifer, Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm, & Duncan, Emma L. (2020) Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome. Molecular Genetics and Genomic Medicine, 8(3), Article number: e1116.

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Gregson, Celia L., Bergen, Dylan J.M., Leo, Paul, Sessions, Richard B., Wheeler, Lawrie, Hartley, April, Youlten, Scott, Croucher, Peter I., McInerney-Leo, Aideen M., Fraser, William, Tang, Jonathan C.Y., Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A., Hammond, Chrissy, Kemp, John P., Tobias, Jon H., Duncan, Emma L., & other, and (2020) A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis. Journal of Bone and Mineral Research, 35(1), pp. 92-105.

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Johnson, Stephanie, Ellis, Jonathan, Leo, Paul, Anderson, Lisa, Ganti, Uma, Harris, Jessica, Curran, Jacqueline, McInerney-Leo, Aideen, Paramalingam, Nirubasini, Song, Sharon, Conwell, Louise, Harris, Mark, Jones, Timothy, Brown, Matt, Davis, Elizabeth, & Duncan, Emma (2019) Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. Pediatric Diabetes, 20(1), pp. 57-64.

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Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J., Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P., Harris, Mark, Duncan, Emma L., Hindmarsh, Peter C., Auchus, Richard J., Donaldson, Malcolm D., Achermann, John C., & Metherell, Louise A. (2019) Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3(1), pp. 201-221.

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Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma, McInerney-Leo, Aideen, Wheeler, Patricia, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, MaryAnn, Eyre, David, Schwarze, Ulrike, & Byers, Peter (2018) Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype. Journal of Bone and Mineral Research, 33(7), pp. 1260-1271.

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McInerney-Leo, Aideen, Wheeler, Lawrie, Sturm, Richard, Tan, Jean-Marie, Harris, Jessica, Anderson, Lisa, Jagirdar, Kasturee, Brown, Matt, Leo, Paul, Soyer, H. Peter, & Duncan, Emma (2018) Point mutation in p14ARF-specific exon 1Beta of CDKN2A causing familial melanoma and astrocytoma (Research Letter). British Journal of Dermatology, 178(4), e263-e264.

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Johnson, Stephanie, Leo, Paul, McInerney-Leo, Aideen, Anderson, Lisa, Clout, Mhairi, McGown, Ivan, Newell, Felicity, Brown, Matt, Conwell, Louise, Harris, Mark, & Duncan, Emma (2018) Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. Pediatric Diabetes, 19(4), pp. 656-662.

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Yanes, Tatiane, Humphreys, Linda, McInerney-Leo, Aideen, & Biesecker, Barbara (2017) Factors associated with parental adaptation to children with an undiagnosed medical condition. Journal of Genetic Counseling, 26(4), pp. 829-840.

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McInerney-Leo, Aideen, Wheeler, Lawrie, Marshall, Mhairi, Anderson, Lisa, Zankl, Andreas, Brown, Matt, Leo, Paul, Wicking, Carol, & Duncan, Emma (2017) Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. American Journal of Medical Genetics, Part A, 173(6), pp. 1698-1704.

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Hunt, Lauren, McInerney-Leo, Aideen, Sinnott, Stephen, Sutton, Bridget, Cincotta, Robert, Duncombe, Gregory, Chua, Jackie, & Peterson, Madelyn (2017) Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause. Journal of Assisted Reproduction and Genetics, 34(10), Article number: 1367 1367-1375.

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Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella, Wang, Roni, McInerney-Leo, Aideen, Leo, Paul, Brown, Matt, Duncan, Emma, & other, and (2017) NAD deficiency, congenital malformations, and niacin supplementation. The New England Journal of Medicine, 377(6), pp. 544-552.

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McInerney-Leo, Aideen, Harris, Jessica, Gattas, Michael, Peach, Elizabeth, Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Wheeler, Lawrie, Anderson, Lisa, Brown, Matt, Leo, Paul, Wicking, Carol, & Duncan, Emma (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37(7), pp. 695-702.

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McInerney-Leo, Aideen, Le Goff, Carine, Leo, Paul, Kenna, Tony, Keith, Patricia, Harris, Jessica, Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matt, Zankl, Andreas, Duncan, Emma, & Cormier-Daire, Valerie (2016) Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53(7), pp. 457-464.

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Wade, Emma, Daniel, Philip, Jenkins, Zandra, McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie-Claude, Ades, Lesley, Bertola, Debora, Bohring, Axel, other, and, Brown, Matt, & Duncan, Emma (2016) Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), pp. 392-406.

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Cortes, Claudio, McInerney-Leo, Aideen, Vogel, Ida, Rondon Galeano, Maria, Leo, Paul, Harris, Jessica, Anderson, Lisa, Keith, Patricia, Brown, Matt, Ramsing, Mette, Duncan, Emma, Zankl, Andreas, & Wicking, Carol (2016) Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Scientific Reports, 6, Article number: 24083 1-10.

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McInerney-Leo, Aideen, Duncan, Emma, Leo, Paul, Gardiner, Brooke, Bradbury, Linda, Harris, Jessica, Clark, Graeme, Brown, Matthew, & Zankl, Andreas (2015) COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? Clinical Genetics, 88(1), pp. 49-55.

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McInerney-Leo, Aideen, Sparrow, Duncan, Harris, Jessica, Gardiner, Brooke, Marshall, Mhairi, O'Reilly, Victoria, Shi, Hongjun, Brown, Matthew, Leo, Paul, Zankl, Andreas, Dunwoodie, Sally, & Duncan, Emma (2015) Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24(5), pp. 1234-1242.

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Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Georgette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, McInerney-Leo, Aideen, & Kimonis, Virginia (2015) Psychological impact of predictive genetic testing in VCP inclusion body myopathy, Paget disease of bone and frontotemporal dementia. Journal of Genetic Counseling, 24(5), pp. 842-850.

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McInerney-Leo, Aideen, Harris, Jessica, Leo, Paul, Marshall, Mhairi, Gardiner, Brooke, Kinning, E., Leong, Huey Yin, McKenzie, Fiona, Ong, W., Vodopiutz, Julia, Wicking, Carol, Brown, Matthew, Zankl, Andreas, & Duncan, Emma (2015) Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88(6), pp. 550-557.

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Lazarus, Syndia, McInerney-Leo, Aideen, McKenzie, Fiona, Baynam, Gareth, Broley, Stephanie, Cavan, Barbra, Munns, Craig, Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien, Pryce, Karena, Brown, Matthew, Zankl, Andreas, Thomas, Gethin, & Duncan, Emma (2014) The IFITM5 mutation c.-14C>T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15, Article number: 107 1-6.

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Scuffham, Tracey, McInerney-Leo, Aideen, Ng, ShuKay (Angus), & Mellick, George (2014) Knowledge and attitudes towards genetic testing in those affected with Parkinson's disease. Journal of Community Genetics, 5(2), pp. 167-177.

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McInerney-Leo, Aideen, Marshall, Mhairi, Gardiner, Brooke, Benn, Diana, McFarlane, Janelle, Robinson, Bruce, Brown, Matthew, Leo, Paul, Clifton-Bligh, Roderick, & Duncan, Emma (2014) Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 80(1), pp. 25-33.

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Sparrow, Duncan, McInerney-Leo, Aideen, Gucev, Zoran, Gardiner, Brooke, Marshall, Mhairi, Leo, Paul, Chapman, Deborah, Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew, Duncan, Emma, & Dunwoodie, Sally (2013) Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22(8), pp. 1625-1631.

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Halbritter, Jan, Bizet, Albane, Schmidts, Miriam, Porath, Jonathan, Braun, Daniela, Gee, Heon Yung, McInerney-Leo, Aideen, Krug, Pauline, Filhol, Emilie, Brown, Matthew, Duncan, Emma, & other, and (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. American Journal of Human Genetics, 93(5), pp. 915-925.

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Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortes, Claudio, McInerney-Leo, Aideen, Emes, Richard, Arts, Heleen, Tuysuz, Beyhan, D'Silva, Jason, Brown, Matthew, & other, and (2013) Mutations in the gene encoding IFT Dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93(5), pp. 932-944.

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McInerney-Leo, Aideen, Schmidts, Miriam, Cortes, Claudio, Leo, Paul, Gener, Blanca, Courtney, Andrew, Gardiner, Brooke, Harris, Jessica, Lu, Yeping, Marshall, Mhairi, Scambler, Peter, Beales, Philip, Brown, Matthew, Zankl, Andreas, Mitchison, Hannah, Duncan, Emma, & Wicking, Carol (2013) Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American Journal of Human Genetics, 93(3), pp. 515-523.

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McInerney-Leo, Aideen, Marshall, Mhairi, Gardiner, Brooke, Coucke, Paul, Van Laer, Lut, Loeys, Bart, Summers, Kim, Symoens, Sofie, West, Jennifer, West, Malcolm, Wordsworth, Paul (B.P.), Zankl, Andreas, Leo, Paul, Brown, Matthew, & Duncan, Emma (2013) Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. BoneKEy Reports, 2, Article number: 456 1-9.

Hunt, Lauren, Peterson, Madelyn, Sinnott, Stephen, Sutton, Bridget, Cincotta, Robert, Duncombe, Gregory, Chua, Jackie, & McInerney-Leo, Aideen (2012) Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: The experience in Queensland, Australia. Prenatal Diagnosis, 32(11), pp. 1049-1052.

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Johnson, Janel, Paisan-Ruiz, Coro, Lopez, Grisel, Crews, Cynthia, Britton, Angela, Malkani, Roneil, Evans, Elizabeth, McInerney-Leo, Aideen, Jain, Shushant, Nussbaum, Robert, Foote, Kelly, Mandel, Ronald, Crawley, Anthony, Reimsnider, Sharon, Fernandez, Hubert, Okun, Michael, Gwinn-Hardy, Katrina, & Singleton, Andrew (2007) Comprehensive Screening of a North American Parkinson's Disease Cohort for LRRK2 Mutation. Neurodegenerative Diseases, 4(5), pp. 386-391.

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McInerney-Leo, Aideen, Hadley, Donald, Kase, Ronald G., Giambarresi, Therese R., Struewing, Jeffery P., & Biesecker, Barbara Bowles (2006) BRCA1/2 testing in hereditary breast and ovarian cancer families III: Risk perception and screening. American Journal of Medical Genetics Part A, 140A(20), pp. 2198-2206.

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Sutton, Erica J., Young, Jessica, McInerney-Leo, Aideen, Bondy, Carolyn A., Gollust, Sarah E., & Biesecker, Barbara B. (2006) Truth-telling and Turner Syndrome: The importance of diagnostic disclosure. The Journal of Pediatrics, 148(1), pp. 102-107.

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Sutton, Erica J., McInerney-Leo, Aideen, Bondy, Carolyn A., Gollust, Sarah E., King, Donnice, & Biesecker, Barbara (2005) Turner syndrome: Four challenges across the lifespan. American Journal of Medical Genetics Part A, 139A(2), pp. 57-66.

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Simon-Sanchez, Javier, Hanson, Melissa, Singleton, Amanda, Hernandez, Dena, McInerney, Aideen, Nussbaum, Robert, Werner, John, Gallardo, Marisol, Weiser, Roberto, Gwinn-Hardy, Katrina, Singleton, Andrew B., & Clarimon, Jordi (2005) Analysis of SCA-2 and SCA-3 repeats in parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neuroscience Letters, 382(1-2), pp. 191-194.

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McInerney-Leo, Aideen (2005) Genetic testing in Parkinson's disease. Movement Disorders, 20(7), pp. 908-909.

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Meyer-Lindenberg, Andreas, Kohn, Philip D., Kolachana, Bhaskar, Kippenhan, Shane, McInerney-Leo, Aideen, Nussbaum, Robert, Weinberger, Daniel R., & Berman, Karen Faith (2005) Midbrain dopamine and prefrontal function in humans: Interaction and modulation by COMT genotype. Nature Neuroscience, 8(5), pp. 594-596.

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McInerney-Leo, Aideen, Biesecker, Barbara B., Hadley, Donald W., Kase, Ronald G., Giambarresi, Therese R., Johnson, Elizabeth, Lerman, Caryn, & Struewing, Jeffery P. (2005) BRCA1/2 testing in hereditary breast and ovarian cancer families II: Impact on relationships. American Journal of Medical Genetics Part A, 133A(2), pp. 165-169.

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Hernandez, Dena G., Pais�n-Ruiz, Coro, McInerney-Leo, Aideen, Jain, Shushant, Meyer-Lindenberg, Andreas, Evans, E. Whitney, Berman, Karen F., Johnson, Janel, Auburger, Georg, Sch�ffer, Alejandro A., Lopez, Grisel J., Nussbaum, Robert L., & Singleton, Andrew B. (2005) Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals of Neurology, 57(3), pp. 453-456.

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McInerney-Leo, Aideen, Hadley, Donald W., Gwinn-Hardy, Katrina, & Hardy, John (2005) Genetic testing in Parkinson's disease. Movement Disorders, 20(1), pp. 1-10.

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Rogaeva, Ekaterina, Johnson, Janel, Lang, Anthony E., Gulick, Cindy, Gwinn-Hardy, Katrina, Kawarai, Toshitaka, Sato, Christine, Morgan, Angharad, Werner, John, Nussbaum, Robert, Petit, Agnes, Okun, Michael S., McInerney, Aideen, Mandel, Ronald, Groen, Justus L., Fernandez, Hubert H., Postuma, Ron, Foote, Kelly D., Salehi-Rad, Shabnam, Liang, Yan, Reimsnider, Sharon, Tandon, Anurag, Hardy, John, St George-Hyslop, Peter, & Singleton, Andrew B. (2004) Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives Neurology, 61(12), pp. 1898-1904.

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McInerney-Leo, Aideen, Biesecker, Barbara Bowles, Hadley, Donald W., Kase, Ronald G., Giambarresi, Therese R., Johnson, Elizabeth, Lerman, Caryn, & Struewing, Jeffery P. (2004) BRCA1/2 testing in hereditary breast and ovarian cancer families: Effectiveness of problem-solving training as a counseling intervention. American Journal of Medical Genetics Part A, 130A(3), pp. 221-227.

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Johnson, J., Hague, S. M., Hanson, M., Gibson, A., Wilson, K. E., Evans, E. W., Singleton, A. A., McInerney-Leo, A., Nussbaum, R. L., Hernandez, D. G., Gallardo, M., McKeith, I. G., Burn, D. J., Ryu, M., Hellstrom, O., Ravina, B., Eerola, J., Perry, R. H., Jaros, E., Tienari, P., Weiser, R., Gwinn-Hardy, K., Morris, C. M., Hardy, J., & Singleton, A. B. (2004) SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology, 63(3), pp. 554-556.

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McInerney-Leo, Aideen, Gwinn-Hardy, Katrina, & Nussbaum, Robert L. (2004) Prevalence of Parkinson's disease in populations of African ancestry: A review. Journal of the National Medical Association, 96(7), pp. 974-979.

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Goker-Alpan, O., Schiffmann, R., LaMarca, M. E., Nussbaum, R. L., McInerney-Leo, A., & Sidransky, E. (2004) Parkinsonism among Gaucher disease carriers. Journal of Medical Genetics, 41(12), pp. 937-940.

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Green, Michael J., McInerney, Aideen M., Biesecker, Barbara B., & Fost, Norman (2001) Education about genetic testing for breast cancer susceptibility: Patient preferences for a computer program or genetic counselor. American Journal of Medical Genetics, 103(1), pp. 24-31.

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Kelberman, D., Tyson, J., Chandler, D., McInerney, A., Slee, J., Albert, D., Aymat, A., Botma, M., Calvert, M., Goldblatt, J., Haan, E., Laing, N., Lim, J., Malcolm, S., Singer, S., Winter, R., & Bitner-Glindzicz, M. (2001) Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome. Human Genetics, 109(6), pp. 638-645.

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Green, Michael J., Biesecker, Barbara B., McInerney, Aideen M., Mauger, David, & Fost, Norman (2001) An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. American Journal of Medical Genetics, 103(1), pp. 16-23.

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Browse By Person: McInerney-Leo, Aideen

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